Incidental Mutation 'IGL02417:Kdm3b'
ID 292491
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kdm3b
Ensembl Gene ENSMUSG00000038773
Gene Name KDM3B lysine (K)-specific demethylase 3B
Synonyms Jmjd1b, 5830462I21Rik, JHDM2B
Accession Numbers
Essential gene? Probably essential (E-score: 0.943) question?
Stock # IGL02417
Quality Score
Status
Chromosome 18
Chromosomal Location 34910100-34971713 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 34941630 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 574 (S574T)
Ref Sequence ENSEMBL: ENSMUSP00000037628 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043775] [ENSMUST00000224715] [ENSMUST00000225195]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000043775
AA Change: S574T

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000037628
Gene: ENSMUSG00000038773
AA Change: S574T

DomainStartEndE-ValueType
low complexity region 20 36 N/A INTRINSIC
Blast:JmjC 149 944 N/A BLAST
Blast:JmjC 946 1064 5e-40 BLAST
Blast:JmjC 1069 1471 N/A BLAST
JmjC 1499 1722 2.43e-65 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224065
Predicted Effect probably benign
Transcript: ENSMUST00000224715
Predicted Effect probably benign
Transcript: ENSMUST00000225195
AA Change: S374T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap5 T A 12: 52,565,136 (GRCm39) N702K probably damaging Het
Atm T C 9: 53,390,995 (GRCm39) T1860A probably benign Het
Bicdl1 A T 5: 115,811,217 (GRCm39) H231Q probably damaging Het
C2cd5 A C 6: 142,987,218 (GRCm39) D470E probably damaging Het
Chd5 T C 4: 152,451,751 (GRCm39) F688L probably damaging Het
Cul3 T C 1: 80,300,619 (GRCm39) Y74C probably damaging Het
Dhx16 A G 17: 36,203,429 (GRCm39) E1042G probably damaging Het
Dnah11 A G 12: 118,020,915 (GRCm39) L1966P probably damaging Het
Dpy19l1 A T 9: 24,386,682 (GRCm39) I204N possibly damaging Het
Drd2 T C 9: 49,313,559 (GRCm39) probably benign Het
Fasn A G 11: 120,711,166 (GRCm39) V228A probably damaging Het
Fggy T C 4: 95,737,846 (GRCm39) W148R probably benign Het
Gm9631 G A 11: 121,834,478 (GRCm39) Het
Gpr89 A T 3: 96,804,741 (GRCm39) Y38* probably null Het
H2-M1 G A 17: 36,983,026 (GRCm39) H22Y possibly damaging Het
Kmt2c C T 5: 25,578,018 (GRCm39) V753I probably benign Het
Lcn9 T C 2: 25,713,692 (GRCm39) F73L possibly damaging Het
Lnpep T C 17: 17,765,165 (GRCm39) T762A possibly damaging Het
Lrp2 C T 2: 69,291,649 (GRCm39) C3510Y probably damaging Het
Nlrp3 T A 11: 59,456,849 (GRCm39) probably benign Het
Or14c39 A G 7: 86,344,027 (GRCm39) Y121C probably damaging Het
Or1j18 A T 2: 36,624,356 (GRCm39) I8F probably benign Het
Or5b3 A G 19: 13,388,259 (GRCm39) T109A possibly damaging Het
Pcnx3 A T 19: 5,736,509 (GRCm39) V176E possibly damaging Het
Phlpp1 T C 1: 106,320,444 (GRCm39) S1480P probably benign Het
Ppfia3 T C 7: 44,991,141 (GRCm39) R1027G probably damaging Het
Rnf216 A G 5: 143,054,665 (GRCm39) Y628H possibly damaging Het
Sh3bp1 G A 15: 78,785,699 (GRCm39) R4Q probably damaging Het
Skint9 A G 4: 112,271,335 (GRCm39) probably benign Het
Slc25a51 A G 4: 45,400,074 (GRCm39) S39P probably benign Het
Smarca4 C T 9: 21,612,386 (GRCm39) R1558C probably damaging Het
Spag9 A G 11: 94,007,567 (GRCm39) S1224G probably benign Het
Spdl1 G T 11: 34,704,181 (GRCm39) Q551K probably benign Het
Sugt1 A G 14: 79,847,698 (GRCm39) I183V probably benign Het
Th G A 7: 142,453,643 (GRCm39) S19L probably damaging Het
Tmprss11g A G 5: 86,638,750 (GRCm39) V246A probably benign Het
Tnfaip8l2 T C 3: 95,047,714 (GRCm39) T50A probably benign Het
Tox3 G T 8: 90,984,759 (GRCm39) T140K possibly damaging Het
Unc50 T A 1: 37,476,531 (GRCm39) Y205* probably null Het
Vmn2r83 A T 10: 79,314,881 (GRCm39) K376N probably benign Het
Other mutations in Kdm3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00162:Kdm3b APN 18 34,942,462 (GRCm39) missense probably benign 0.03
IGL01357:Kdm3b APN 18 34,926,067 (GRCm39) missense probably damaging 1.00
IGL01615:Kdm3b APN 18 34,962,284 (GRCm39) missense probably damaging 1.00
IGL01980:Kdm3b APN 18 34,967,289 (GRCm39) missense probably damaging 1.00
IGL02277:Kdm3b APN 18 34,956,717 (GRCm39) missense probably damaging 1.00
IGL02346:Kdm3b APN 18 34,967,291 (GRCm39) missense probably damaging 1.00
IGL02531:Kdm3b APN 18 34,928,782 (GRCm39) missense probably benign
IGL02589:Kdm3b APN 18 34,945,471 (GRCm39) missense possibly damaging 0.89
IGL02793:Kdm3b APN 18 34,962,072 (GRCm39) missense probably damaging 0.99
IGL03121:Kdm3b APN 18 34,928,762 (GRCm39) missense probably damaging 0.98
IGL03123:Kdm3b APN 18 34,942,544 (GRCm39) critical splice donor site probably null
IGL03128:Kdm3b APN 18 34,960,480 (GRCm39) missense probably damaging 1.00
Affable UTSW 18 34,926,058 (GRCm39) missense probably damaging 1.00
Dotage UTSW 18 34,960,435 (GRCm39) missense probably damaging 1.00
Endearing UTSW 18 34,960,381 (GRCm39) splice site probably null
Oldtimer UTSW 18 34,956,752 (GRCm39) nonsense probably null
PIT4382001:Kdm3b UTSW 18 34,942,140 (GRCm39) missense probably damaging 1.00
PIT4445001:Kdm3b UTSW 18 34,926,168 (GRCm39) nonsense probably null
R0068:Kdm3b UTSW 18 34,957,827 (GRCm39) missense probably benign 0.18
R0068:Kdm3b UTSW 18 34,957,827 (GRCm39) missense probably benign 0.18
R0233:Kdm3b UTSW 18 34,942,473 (GRCm39) missense probably damaging 0.97
R0265:Kdm3b UTSW 18 34,928,716 (GRCm39) splice site probably benign
R0306:Kdm3b UTSW 18 34,937,070 (GRCm39) missense probably benign 0.35
R0941:Kdm3b UTSW 18 34,936,605 (GRCm39) missense probably damaging 0.99
R0970:Kdm3b UTSW 18 34,942,092 (GRCm39) missense probably damaging 1.00
R1061:Kdm3b UTSW 18 34,929,915 (GRCm39) missense probably damaging 1.00
R1104:Kdm3b UTSW 18 34,952,864 (GRCm39) missense probably damaging 1.00
R1221:Kdm3b UTSW 18 34,941,298 (GRCm39) missense possibly damaging 0.57
R1486:Kdm3b UTSW 18 34,967,357 (GRCm39) missense probably damaging 1.00
R1523:Kdm3b UTSW 18 34,926,226 (GRCm39) critical splice donor site probably null
R1558:Kdm3b UTSW 18 34,942,149 (GRCm39) missense probably damaging 1.00
R1585:Kdm3b UTSW 18 34,942,345 (GRCm39) missense probably damaging 1.00
R1601:Kdm3b UTSW 18 34,941,784 (GRCm39) missense probably damaging 1.00
R1650:Kdm3b UTSW 18 34,942,168 (GRCm39) missense possibly damaging 0.93
R1772:Kdm3b UTSW 18 34,936,557 (GRCm39) missense probably benign 0.01
R1853:Kdm3b UTSW 18 34,966,446 (GRCm39) missense probably damaging 1.00
R1934:Kdm3b UTSW 18 34,946,597 (GRCm39) missense probably benign 0.04
R1959:Kdm3b UTSW 18 34,945,448 (GRCm39) missense possibly damaging 0.55
R2079:Kdm3b UTSW 18 34,936,570 (GRCm39) missense probably damaging 1.00
R2102:Kdm3b UTSW 18 34,963,200 (GRCm39) missense probably damaging 1.00
R2121:Kdm3b UTSW 18 34,929,833 (GRCm39) splice site probably benign
R2281:Kdm3b UTSW 18 34,941,472 (GRCm39) missense probably damaging 1.00
R3719:Kdm3b UTSW 18 34,941,724 (GRCm39) missense probably damaging 1.00
R3755:Kdm3b UTSW 18 34,941,349 (GRCm39) missense probably benign
R3857:Kdm3b UTSW 18 34,966,440 (GRCm39) missense probably benign
R4165:Kdm3b UTSW 18 34,928,797 (GRCm39) missense probably benign 0.01
R4166:Kdm3b UTSW 18 34,928,797 (GRCm39) missense probably benign 0.01
R4372:Kdm3b UTSW 18 34,960,497 (GRCm39) missense probably benign 0.00
R4672:Kdm3b UTSW 18 34,941,630 (GRCm39) missense probably benign
R4933:Kdm3b UTSW 18 34,943,446 (GRCm39) missense probably damaging 1.00
R4969:Kdm3b UTSW 18 34,955,428 (GRCm39) missense probably damaging 1.00
R5009:Kdm3b UTSW 18 34,957,763 (GRCm39) missense probably benign 0.42
R5059:Kdm3b UTSW 18 34,910,250 (GRCm39) missense possibly damaging 0.83
R5092:Kdm3b UTSW 18 34,946,515 (GRCm39) missense probably benign 0.16
R5270:Kdm3b UTSW 18 34,960,467 (GRCm39) missense probably damaging 1.00
R5816:Kdm3b UTSW 18 34,961,522 (GRCm39) missense probably damaging 0.99
R5970:Kdm3b UTSW 18 34,962,342 (GRCm39) missense probably damaging 1.00
R6244:Kdm3b UTSW 18 34,926,058 (GRCm39) missense probably damaging 1.00
R6705:Kdm3b UTSW 18 34,952,926 (GRCm39) missense probably damaging 1.00
R6723:Kdm3b UTSW 18 34,926,058 (GRCm39) missense probably damaging 0.99
R6909:Kdm3b UTSW 18 34,960,381 (GRCm39) splice site probably null
R6958:Kdm3b UTSW 18 34,941,336 (GRCm39) missense probably benign 0.00
R7026:Kdm3b UTSW 18 34,955,517 (GRCm39) missense possibly damaging 0.90
R7289:Kdm3b UTSW 18 34,927,557 (GRCm39) missense probably benign 0.00
R7488:Kdm3b UTSW 18 34,957,934 (GRCm39) missense probably damaging 0.97
R7587:Kdm3b UTSW 18 34,930,080 (GRCm39) splice site probably null
R7695:Kdm3b UTSW 18 34,927,612 (GRCm39) missense possibly damaging 0.86
R7846:Kdm3b UTSW 18 34,942,293 (GRCm39) missense possibly damaging 0.94
R7984:Kdm3b UTSW 18 34,956,752 (GRCm39) nonsense probably null
R7997:Kdm3b UTSW 18 34,941,336 (GRCm39) missense probably benign 0.00
R8035:Kdm3b UTSW 18 34,941,781 (GRCm39) missense probably damaging 1.00
R8064:Kdm3b UTSW 18 34,946,460 (GRCm39) critical splice acceptor site probably null
R8141:Kdm3b UTSW 18 34,961,599 (GRCm39) nonsense probably null
R8302:Kdm3b UTSW 18 34,967,388 (GRCm39) missense probably damaging 1.00
R8328:Kdm3b UTSW 18 34,926,123 (GRCm39) missense probably damaging 1.00
R8443:Kdm3b UTSW 18 34,926,129 (GRCm39) missense probably benign 0.04
R8513:Kdm3b UTSW 18 34,926,129 (GRCm39) missense probably benign 0.04
R8515:Kdm3b UTSW 18 34,926,129 (GRCm39) missense probably benign 0.04
R8523:Kdm3b UTSW 18 34,926,129 (GRCm39) missense probably benign 0.04
R8717:Kdm3b UTSW 18 34,952,840 (GRCm39) missense probably damaging 0.98
R8725:Kdm3b UTSW 18 34,960,435 (GRCm39) missense probably damaging 1.00
R8727:Kdm3b UTSW 18 34,960,435 (GRCm39) missense probably damaging 1.00
R8762:Kdm3b UTSW 18 34,937,157 (GRCm39) missense probably benign
R8835:Kdm3b UTSW 18 34,941,802 (GRCm39) missense probably damaging 1.00
R8918:Kdm3b UTSW 18 34,970,650 (GRCm39) missense probably damaging 1.00
R9015:Kdm3b UTSW 18 34,963,212 (GRCm39) missense probably damaging 1.00
R9144:Kdm3b UTSW 18 34,927,558 (GRCm39) missense probably benign
R9246:Kdm3b UTSW 18 34,941,480 (GRCm39) nonsense probably null
R9376:Kdm3b UTSW 18 34,970,718 (GRCm39) missense probably damaging 0.99
X0028:Kdm3b UTSW 18 34,932,319 (GRCm39) splice site probably null
X0067:Kdm3b UTSW 18 34,956,570 (GRCm39) missense probably benign 0.00
Z1176:Kdm3b UTSW 18 34,942,122 (GRCm39) nonsense probably null
Posted On 2015-04-16